• Gene id: 1641

Gene Summary

• Gene Symbol: DCX   Gene   UCSC   Ensembl
• Aliases: DBCN, DC, LISX, SCLH, XLIS
• Gene name: doublecortin
• Alternate names: neuronal migration protein doublecortin, doublecortex, doublin, lis-X, lissencephalin-X,
• Gene location: Xq23 (111412204: 111293778)     Exons: 12     NC_000023.11
• Gene summary(Entrez): This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to
• OMIM: 300121

SNPs

rs4680

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19963748G>A
NC_000022.10   g.19951271G>A
NG_011526.1   g.27009G>A
NM_000754.4   c.472G>A
NM_000754.3   c.472G>A
NM_007310.3   c.322G>A
NM_007310.2   c.322G>A
NM_001362828.2   c.472G>A
NM_001362828.1   c.472G>A
NM_001135161.2   c.472G>A
NM_001135161.1   c.

rs2292596

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.422840C>G
NC_000005.10   g.422840C>T
NC_000005.9   g.422955C>G
NC_000005.9   g.422955C>T
NG_029834.2   g.123665C>G
NG_029834.2   g.123665C>T
NG_029834.1   g.123665C>G
NG_029834.1   g.123665C>T
NM_020731.4   c.565C>G
NM_020731.4   c.565C>T
NM_001242412.1  

Protein Summary

• Protein general information: O43602  
  • Name: Neuronal migration protein doublecortin (Doublin) (Lissencephalin X) (Lis X)
  • Length: 365  
  • Mass: 40574
  • Tissue specificity: Highly expressed in neuronal cells of fetal brain (in the majority of cells of the cortical plate, intermediate zone and ventricular zone), but not expressed in other fetal tissues. In the adult, highly expressed in the brain frontal l
• Sequence:

  MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSD
  RFRSFDALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNV
  KTSANMKAPQSLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVV
  KKLYTLDGKQVTCLHDFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGP
  MRRSKSPADSGNDQDANGTSSSQLSTPKSKQSPISTPTSPGSLRKHKDLYLPLSLDDSDSLGDSM

• Structural information:
  • Protein Domains: (53..13-)
    (/note="Doublecortin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00072-)
    (180..26-)
    (/note="Doublecortin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00072"-)
  • Interpro: IPR017302  IPR003533  IPR036572  IPR040163  
  • Prosite: PS50309
  • PDB: 1MJD 2BQQ 2XRP 4ATU 5IKC 5IN7 5IO9 5IOI 5IP4 6FNZ
  • PDBsum: 1MJD 2BQQ 2XRP 4ATU 5IKC 5IN7 5IO9 5IOI 5IP4 6FNZ
  • STRING: ENSP00000337697
• Other Databases: GeneCards:  DCX  Malacards:  DCX

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005930	axoneme	IBA	cellular component
GO:0042461	photoreceptor cell development	IBA	biological process
GO:0060041	retina development in camera-type eye	IBA	biological process
GO:0035082	axoneme assembly	IBA	biological process
GO:0043005	neuron projection	IDA	cellular component
GO:0008017	microtubule binding	IDA	molecular function
GO:0001764	neuron migration	IDA	biological process
GO:0008017	microtubule binding	IMP	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005874	microtubule	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0007417	central nervous system development	TAS	biological process
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005875	microtubule associated complex	TAS	cellular component
GO:0007399	nervous system development	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043005	neuron projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Lissencephaly	KEGG:H00268
Lissencephaly	KEGG:H00268
Lissencephaly	PMID:11071144
Lissencephaly	PMID:27292316
Lissencephaly	PMID:12838518
Subcortical band heterotopia	PMID:10369164
Malignant glioma	PMID:21477071
Temporal lobe epilepsy	PMID:20888264
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray